Regulation of pre-mRNA splicing: roles in physiology and disease, and therapeutic prospects

ME Rogalska, C Vivori, J Valcárcel - Nature Reviews Genetics, 2023 - nature.com
The removal of introns from mRNA precursors and its regulation by alternative splicing are
key for eukaryotic gene expression and cellular function, as evidenced by the numerous …

RNA splicing by the spliceosome

ME Wilkinson, C Charenton… - Annual review of …, 2020 - annualreviews.org
The spliceosome removes introns from messenger RNA precursors (pre-mRNA). Decades
of biochemistry and genetics combined with recent structural studies of the spliceosome …

Logomaker: beautiful sequence logos in Python

A Tareen, JB Kinney - Bioinformatics, 2020 - academic.oup.com
Sequence logos are visually compelling ways of illustrating the biological properties of DNA,
RNA and protein sequences, yet it is currently difficult to generate and customize such logos …

MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect

D Esposito, J Weile, J Shendure, LM Starita… - Genome biology, 2019 - Springer
Multiplex assays of variant effect (MAVEs), such as deep mutational scans and massively
parallel reporter assays, test thousands of sequence variants in a single experiment. Despite …

Scalable functional assays for the interpretation of human genetic variation

D Tabet, V Parikh, P Mali, FP Roth… - Annual Review of …, 2022 - annualreviews.org
Scalable sequence–function studies have enabled the systematic analysis and cataloging of
hundreds of thousands of coding and noncoding genetic variants in the human genome …

Synthetic introns enable splicing factor mutation-dependent targeting of cancer cells

K North, S Benbarche, B Liu, J Pangallo, S Chen… - Nature …, 2022 - nature.com
Many cancers carry recurrent, change-of-function mutations affecting RNA splicing factors.
Here, we describe a method to harness this abnormal splicing activity to drive splicing factor …

Massively parallel assays and quantitative sequence–function relationships

JB Kinney, DM McCandlish - Annual review of genomics and …, 2019 - annualreviews.org
Over the last decade, a rich variety of massively parallel assays have revolutionized our
understanding of how biological sequences encode quantitative molecular phenotypes …

m6A modification of U6 snRNA modulates usage of two major classes of pre-mRNA 5'splice site

MT Parker, BK Soanes, J Kusakina, A Larrieu, K Knop… - Elife, 2022 - elifesciences.org
Alternative splicing of messenger RNAs is associated with the evolution of developmentally
complex eukaryotes. Splicing is mediated by the spliceosome, and docking of the pre-mRNA …

MAVE-NN: learning genotype-phenotype maps from multiplex assays of variant effect

A Tareen, M Kooshkbaghi, A Posfai, WT Ireland… - Genome biology, 2022 - Springer
Multiplex assays of variant effect (MAVEs) are a family of methods that includes deep
mutational scanning experiments on proteins and massively parallel reporter assays on …

Splicing of long non-coding RNAs primarily depends on polypyrimidine tract and 5′ splice-site sequences due to weak interactions with SR proteins

Z Krchňáková, PK Thakur, M Krausová… - Nucleic acids …, 2019 - academic.oup.com
Many nascent long non-coding RNAs (lncRNAs) undergo the same maturation steps as pre-
mRNAs of protein-coding genes (PCGs), but they are often poorly spliced. To identify the …